Canonical Allele Identifier: CA517925621
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107938061T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108694831T>G , CM000685.2:g.108694831T>G GRCh38
NC_000023.10:g.107938061T>G , CM000685.1:g.107938061T>G GRCh37
NC_000023.9:g.107824717T>G NCBI36
NG_011977.1:g.259908T>G
NG_011977.2:g.259908T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4731T>G MANE Select ENSP00000331902.7:p.Ala1577=
ENST00000361603.7:c.4713T>G ENSP00000354505.2:p.Ala1571=
ENST00000510690.2:n.1225T>G
ENST00000644079.1:n.1217T>G
ENST00000328300.10:c.4731T>G ENSP00000331902.6:p.Ala1577=
ENST00000361603.6:c.4713T>G ENSP00000354505.2:p.Ala1571=
ENST00000504541.1:c.129T>G ENSP00000424845.1:p.Ala43=
ENST00000515658.1:c.325-1466T>G
NM_000495.4:c.4713T>G NP_000486.1:p.Ala1571=
NM_033380.2:c.4731T>G NP_203699.1:p.Ala1577=
XM_005262070.2:c.4722T>G XP_005262127.1:p.Ala1574=
XM_006724616.2:c.4731T>G XP_006724679.1:p.Ala1577=
XM_011530849.1:c.4407T>G XP_011529151.1:p.Ala1469=
XM_011530851.1:c.2304T>G XP_011529153.1:p.Ala768=
XM_011530849.2:c.4746T>G XP_011529151.2:p.Ala1582=
XM_017029259.2:c.4737T>G XP_016884748.1:p.Ala1579=
XM_017029260.1:c.4728T>G XP_016884749.1:p.Ala1576=
XM_017029263.2:c.3066T>G XP_016884752.1:p.Ala1022=
NM_000495.5:c.4713T>G NP_000486.1:p.Ala1571=
NM_033380.3:c.4731T>G MANE Select NP_203699.1:p.Ala1577=